A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926596



Internal ID2556987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47195253..47197409hg38UCSC Ensembl
Innerchr1:47195275..47197387hg38UCSC Ensembl
Outerchr1:47195231..47197431hg38UCSC Ensembl
chr1:47660925..47663081hg19UCSC Ensembl
Innerchr1:47660947..47663059hg19UCSC Ensembl
Outerchr1:47660903..47663103hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382157
hg192157
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585953
Supporting Variants
SamplesHG02271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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